Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs772203447
rs772203447
VWF
1 1.000 0.080 12 6044430 missense variant C/T snv 5.6E-05 1.4E-05 0.700 1.000 4 2008 2016
dbSNP: rs61751286
rs61751286
VWF
1 1.000 0.080 12 5976158 missense variant G/A snv 8.0E-05 1.3E-04 0.700 1.000 3 2007 2009
dbSNP: rs61749395
rs61749395
VWF
1 1.000 0.080 12 6019475 missense variant G/A snv 0.710 1.000 2 2001 2019
dbSNP: rs61750100
rs61750100
VWF
1 1.000 0.080 12 6018901 missense variant G/A snv 0.710 1.000 2 2017 2019
dbSNP: rs61751288
rs61751288
VWF
1 1.000 0.080 12 5976140 stop gained G/A snv 1.2E-05 0.710 1.000 2 2002 2019
dbSNP: rs141649383
rs141649383
VWF
1 1.000 0.080 12 6057953 missense variant G/A;C snv 7.2E-04 0.700 1.000 1 2019 2019
dbSNP: rs2363337
rs2363337
VWF
1 1.000 0.080 12 6023630 splice donor variant C/T snv 2.0E-05 2.1E-05 0.700 1.000 1 2019 2019
dbSNP: rs267607321
rs267607321
VWF
1 1.000 0.080 12 6023651 missense variant C/G snv 0.700 1.000 1 2019 2019
dbSNP: rs267607333
rs267607333
VWF
1 1.000 0.080 12 6021901 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs267607334
rs267607334
VWF
1 1.000 0.080 12 6019555 missense variant A/C snv 0.700 1.000 1 2019 2019
dbSNP: rs267607340
rs267607340
VWF
1 1.000 0.080 12 6018806 inframe deletion ACGTGGATG/- delins 0.700 1.000 1 2019 2019
dbSNP: rs267607369
rs267607369
VWF ; ANO2
1 1.000 0.080 12 5949055 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs373787920
rs373787920
VWF
1 1.000 0.080 12 6021961 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2019 2019
dbSNP: rs57950734
rs57950734
VWF
1 1.000 0.080 12 6036483 missense variant A/T snv 8.7E-03 3.5E-02 0.010 1.000 1 2013 2013
dbSNP: rs61748466
rs61748466
VWF
1 1.000 0.080 12 6046726 missense variant G/A snv 1.6E-05 1.4E-05 0.010 1.000 1 2003 2003
dbSNP: rs61748482
rs61748482
VWF
1 1.000 0.080 12 6034813 missense variant G/A snv 2.0E-05 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs61749364
rs61749364
VWF
1 1.000 0.080 12 6022006 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs61749408
rs61749408
VWF
1 1.000 0.080 12 6019336 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs61750069
rs61750069
VWF
1 1.000 0.080 12 6019313 missense variant A/T snv 0.700 1.000 1 2019 2019
dbSNP: rs61750077
rs61750077
VWF
1 1.000 0.080 12 6019223 missense variant G/A snv 2.4E-05 9.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs61750081
rs61750081
VWF
1 1.000 0.080 12 6019171 missense variant A/G;T snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs61750586
rs61750586
VWF
1 1.000 0.080 12 6018532 frameshift variant C/- delins 0.010 1.000 1 2017 2017
dbSNP: rs61750605
rs61750605
VWF
1 1.000 0.080 12 6016223 missense variant A/G snv 0.700 1.000 1 2019 2019
dbSNP: rs61750624
rs61750624
VWF
1 1.000 0.080 12 5991818 splice donor variant C/A snv 4.0E-06 0.700 1.000 1 2019 2019
dbSNP: rs61751311
rs61751311
VWF ; ANO2
1 1.000 0.080 12 5949139 missense variant C/G snv 0.010 1.000 1 2012 2012